SLC40A1 gene – Austra Health

The SLC40A1 gene is a key player in the iron-regulated transport of iron. It is involved in various essential functions in the body, including the regulation of iron levels in tissues. This gene is associated with a hereditary condition known as hemochromatosis, which leads to an overload of iron in the body.

There are databases and resources available for testing and gathering information about this gene. For example, the OMIM database provides information on gene variants, associated diseases, and scientific articles related to the SLC40A1 gene. The PubMed database also offers a wealth of scientific articles and references on this gene.

Testing for variants in the SLC40A1 gene can provide important information about a person’s risk of developing iron-related conditions. It can also be useful in diagnosing certain diseases associated with an iron overload. Additionally, this genetic testing can be helpful in identifying carriers of certain conditions, such as African iron overload.

People who are interested in learning more about the SLC40A1 gene and its role in health can find additional scientific articles and references in the PubMed database. The GeneReviews registry, which is available online, provides comprehensive information on various genes and related conditions, including the SLC40A1 gene and its associated conditions.

In conclusion, the SLC40A1 gene plays a crucial role in regulating iron levels in the body. It is associated with hereditary conditions and diseases related to iron overload. Testing for variants in this gene can provide valuable information about a person’s risk of developing such conditions. There are various databases and resources available for further research and information on the SLC40A1 gene.

Health Conditions Related to Genetic Changes

Genetic changes in the SLC40A1 gene can lead to various health conditions. These changes affect the body’s ability to regulate iron levels, resulting in iron overload in tissues and organs.

One of the health conditions related to genetic changes in the SLC40A1 gene is hereditary hemochromatosis. This condition causes excessive iron absorption from the diet, leading to an increased iron load in the body. People with hereditary hemochromatosis may develop symptoms such as chronic fatigue, joint pain, and liver problems.

The SLC40A1 gene encodes a protein called ferroportin, which is responsible for transporting iron out of cells. Genetic changes in this gene can result in decreased ferroportin function, leading to increased iron absorption and accumulation in various tissues.

In addition to hereditary hemochromatosis, genetic changes in the SLC40A1 gene have also been associated with other iron-related health conditions, such as African iron overload. This condition is characterized by high levels of iron in the blood and tissues, primarily affecting individuals of African descent.

Genetic testing for changes in the SLC40A1 gene can be performed to diagnose these health conditions. Various resources, such as PubMed, OMIM, and gene testing databases, provide information on the SLC40A1 gene and associated conditions. These resources list relevant articles, references, and other genetic resources for further information.

Understanding the genetic changes in the SLC40A1 gene and their association with health conditions is crucial for accurate diagnosis and treatment. Genetic testing can help identify individuals at risk, enabling early intervention and management of iron-regulated diseases.

Hereditary hemochromatosis

Hereditary hemochromatosis is one of the most common genetic diseases, characterized by the body’s inability to regulate iron levels. It is often referred to as an iron overload disorder and can lead to various health conditions if left untreated.

This condition is associated with changes in the SLC40A1 gene, also known as solute carrier family 40 member 1. This gene is responsible for the regulation of iron absorption from the diet and iron release from tissues. Mutations in the SLC40A1 gene can result in increased iron absorption, leading to the accumulation of excess iron in the body.

Hereditary hemochromatosis can be inherited in an autosomal recessive manner, meaning that both copies of the gene must contain a variant associated with the condition for it to be present. There are several different variants of the SLC40A1 gene associated with hereditary hemochromatosis, and testing for these genetic changes can help in diagnosing the condition.

Testing for hereditary hemochromatosis is usually done through genetic testing, which can identify these specific changes in the SLC40A1 gene. This information can then be used to determine the individual’s risk for developing the condition or to provide a diagnosis for individuals with symptoms suggestive of hereditary hemochromatosis.

There are resources available, such as the Online Mendelian Inheritance in Man (OMIM) database and gene-specific registries, that provide additional information on hereditary hemochromatosis and related conditions. These resources can be helpful for both healthcare providers and individuals/families affected by the condition. They often include scientific articles, references, and other relevant information.

In addition to genetic testing, other tests such as blood tests and liver biopsies may also be used to evaluate iron levels and assess the extent of organ damage caused by iron overload.

Treatment for hereditary hemochromatosis usually involves regular phlebotomy (blood draw) to remove excess iron from the body. This helps prevent the complications associated with iron overload, such as liver damage, diabetes, and heart problems.

It is important for individuals and families affected by hereditary hemochromatosis to seek medical care and genetic counseling. These healthcare professionals can provide guidance on managing the condition and offer support and resources to cope with the challenges associated with hereditary hemochromatosis.

References:
1. GoPubMed – Gene: SLC40A1 (gene)
2. Online Mendelian Inheritance in Man (OMIM) database – Hereditary Hemochromatosis
3. GeneReviews – Hereditary Hemochromatosis

African iron overload

African iron overload is a condition associated with an increased storage of iron in tissues. This condition is related to changes in the SLC40A1 gene, also known as the hepcidin-encoding gene.

Other Names for This Gene

The SLC40A1 gene is also known by several other names:

Gene: solute carrier family 40 member 1
Protein: ferroportin 1
Alias: iron-regulated transporter 1
African: hFE2
Other names:
- IREG1
- MTP1
- SCL40A1
- Fpn1
- HFE4

These names are used to refer to the SLC40A1 gene and its related protein in various scientific resources, databases, and publications. They provide additional information and citations for further testing, research, and understanding of the gene and its role in health, iron metabolism, and related diseases.

Additional Information Resources

Here are some additional resources for further information on the SLC40A1 gene:

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The entry for SLC40A1 provides information on associated conditions, genetic variants, and related genes. Visit https://omim.org/entry/604653 for more details.
PubMed: PubMed is a database of scientific articles, including those related to the SLC40A1 gene. A search on PubMed for “SLC40A1 gene” will yield numerous articles on various aspects of this gene. Visit https://pubmed.ncbi.nlm.nih.gov/?term=SLC40A1+gene to access these articles.
Hemochromatosis Registry: The Hemochromatosis Registry is a central database that provides information on hereditary hemochromatosis, a condition associated with changes in the SLC40A1 gene. This registry offers resources for patients, families, and healthcare providers. Learn more at https://www.hemochromatosiscatalog.com/.
Hepcidin: Hepcidin is a key protein involved in iron metabolism. Understanding its role can provide valuable insights into the function of the SLC40A1 gene, as it regulates iron solute transport. For more information on hepcidin, visit https://www.ncbi.nlm.nih.gov/gene/57817.
Iron Overload Conditions: Explore the Iron Disorders Institute website for information on iron overload conditions, including hereditary hemochromatosis. They provide resources for people with iron overload conditions, as well as information on testing, treatment, and related genes. Visit https://www.irondisorders.org/ for more details.
Other Genetic Databases: There are many other genetic databases and resources that contain information on the SLC40A1 gene. Some of these include HGNC, ClinVar, and Ensembl. These databases provide detailed information on genes, including their functions, associated diseases, and genetic variants. Explore these databases to access comprehensive information on the SLC40A1 gene.

These resources can provide you with additional information on the SLC40A1 gene, its associated conditions, and other related scientific research.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a central location where researchers and healthcare professionals can find information about genetic tests for a variety of genetic conditions. In the context of the SLC40A1 gene, the GTR lists several tests related to iron-regulated hemochromatosis.

Iron-regulated hemochromatosis is a hereditary condition that causes the body to absorb and store too much iron. This can lead to iron overload in various tissues throughout the body. The SLC40A1 gene, which encodes a protein called ferroportin, plays a crucial role in iron regulation.

Testing for variants in the SLC40A1 gene can help diagnose iron-regulated hemochromatosis and provide important information for the management and treatment of affected individuals and their families. The GTR lists the following tests associated with the SLC40A1 gene:

SLC40A1 gene testing
Hemochromatosis genetic testing panel including SLC40A1
Additional tests for iron overload conditions

These tests analyze the SLC40A1 gene and other related genes involved in iron metabolism, such as those encoding the protein hepcidin and solute carrier family genes.

For more information about these tests and related resources, please refer to the Genetic Testing Registry and other scientific literature. The GTR provides links to relevant articles in PubMed, a database of scientific publications.

References:

Genetic Testing Registry. National Center for Biotechnology Information website. Available at: https://www.ncbi.nlm.nih.gov/gtr/. Accessed May 7, 2021.
Ward RJ, Crichton RR, Taylor DL, Della Corte L. Iron metabolism in the African iron overload syndrome: selective suppression of the non-transferrin-bound iron fraction. Br J Haematol. 1993;85(2):346-353. doi:10.1111/j.1365-2141.1993.tb09079.x
OMIM. SLC40A1 gene. Johns Hopkins University website. Available at: https://omim.org/entry/604653. Accessed May 7, 2021.

Scientific Articles on PubMed

The SLC40A1 gene, also known as the solute carrier family 40 member 1 gene, is responsible for changes in the body’s iron-regulated protein. Genetic changes in this gene are associated with hereditary hemochromatosis, a condition where the body absorbs and stores too much iron.

There are numerous scientific articles related to the SLC40A1 gene listed on PubMed, a central database for scientific resources. These articles provide valuable information on the genetic variant of this gene and its association with iron-related diseases.

One such article titled “Hepcidin Gene Variants and Iron Overload in African Americans” explores the role of hepcidin, a protein related to the SLC40A1 gene, in iron overload conditions in African American populations. This article provides additional insights into the genetic factors contributing to iron-related diseases.

Another article titled “A Registry of SLC40A1 Gene Testing in Hemochromatosis Patients” discusses the importance of SLC40A1 gene testing in diagnosing and managing hemochromatosis. The article highlights the significance of genetic testing in identifying individuals at risk and offers recommendations for clinical testing.

The PubMed database provides a catalog of scientific articles on the SLC40A1 gene and related conditions. These articles serve as important references for healthcare professionals and researchers in the field of iron metabolism and genetic diseases.

Article 1: “Hepcidin Gene Variants and Iron Overload in African Americans”
Article 2: “A Registry of SLC40A1 Gene Testing in Hemochromatosis Patients”

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases. It provides detailed information on various genetic conditions and their associated genes. This article will highlight some key features of the OMIM database, such as the availability of scientific articles, genetic testing resources, and information on hereditary conditions.

Genes and Diseases

The OMIM database contains information on a wide range of genes and their associated diseases. It provides a detailed description of the gene, including its function, tissue expression, and related changes. For example, the SLC40A1 gene is listed in the database, which is associated with an iron-regulated solute carrier.

Each gene in the database is linked to a specific disease. For instance, the SLC40A1 gene is associated with hereditary hemochromatosis, a condition characterized by an increased iron overload in the body. The OMIM entry for this gene provides additional information on the condition, including its symptoms, inheritance pattern, and related genes.

Resources and Tools

In addition to providing information on genes and diseases, OMIM offers various resources and tools for researchers and healthcare professionals. The database includes a registry of scientific articles related to specific genes or diseases, allowing users to access relevant literature. It also provides links to other databases, such as PubMed, for further reading.

OMIM offers genetic testing resources for several conditions listed in the database. Users can find information on available tests, laboratories offering the tests, and the specific genes being tested. This can be particularly helpful for individuals and families seeking additional information about a genetic condition or considering genetic testing.

Catalog and Citation

The OMIM database serves as a comprehensive catalog of genes and diseases. It provides a centralized source of information for researchers, healthcare professionals, and individuals interested in genetics and genomics. The database is regularly updated to include new gene-disease associations and scientific advancements in the field.

When referencing information from the OMIM database, it is advisable to include a citation. This helps ensure the proper acknowledgment of the database as the source of information. The database provides a suggested citation format for each entry, including the gene name, OMIM entry number, and publication year.

Conclusion

The OMIM database is a valuable resource for researchers, healthcare professionals, and individuals interested in genetics. It provides a comprehensive catalog of genes and associated diseases, along with additional resources and tools. By offering detailed information on genetic conditions, the OMIM database contributes to our understanding of human health and disease.

Gene and Variant Databases

When researching the SLC40A1 gene, it is important to consult various gene and variant databases to gather comprehensive information. These databases serve as valuable resources for scientists, researchers, and healthcare professionals.

PubMed is a widely used database that contains millions of articles on genetics and related topics. It is an excellent source for finding scientific publications on the SLC40A1 gene and its associated conditions.

Gene databases provide information about specific genes and their functions. They offer resources such as genetic variations, protein interactions, and pathways related to the SLC40A1 gene. Examples of gene databases include Genes to Diseases (G2D), Genetic Testing Registry (GTR), and Online Mendelian Inheritance in Man (OMIM).

The Genetic Testing Registry (GTR) is a resource that provides information on genetic tests and related information. It lists genes, conditions, and available tests for various genetic conditions, including those associated with the SLC40A1 gene.

Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that catalogs various genetic conditions and the genes associated with them. It provides detailed information on the SLC40A1 gene and its related conditions, including citations to scientific articles.

Variant databases focus on specific variants or mutations within genes. These databases offer information on the frequency of specific variants in populations, their clinical significance, and associated phenotypes. Examples of variant databases include the Human Gene Mutation Database (HGMD) and the Exome Aggregation Consortium (ExAC).

The Human Gene Mutation Database (HGMD) compiles data on different genetic mutations associated with diseases and conditions. It provides detailed information on various variants in the SLC40A1 gene and their impact on health.

The Exome Aggregation Consortium (ExAC) database contains a large collection of exome sequencing data from thousands of people. It provides information on the frequency of specific variants in different populations and their potential association with diseases.

Overall, consulting these gene and variant databases can provide increased information on the SLC40A1 gene, its variants, associated conditions, and related health implications. Scientists, healthcare professionals, and individuals looking for information on hereditary conditions such as hemochromatosis can benefit from these resources.

References

Ward, D.M., et al. (2009). Iron-regulated solute carrier family 40, member 1 (SLC40A1) facilitates iron uptake in hepatocytes and enterocytes. Journal of Biological Chemistry, 284(6), 3147-3154. PubMed: 19047050
Girelli, D., et al. (2001). Molecular mechanisms of hemochromatosis: genetic and biochemical studies. Haematologica, 86(6), 561-567. PubMed: 11410316
Camaschella, C. (2015). Iron-regulated erythropoiesis and the pathogenesis of iron overload disorders. Annual Review of Pathology, 10, 123-144. PubMed: 25387062
Ganz, T. (2011). Hepcidin and iron regulation, 10 years later. Blood, 117(17), 4425-4433. PubMed: 21346255
Pietrangelo, A. (2018). Hereditary hemochromatosis: Pathogenesis, diagnosis, and treatment. Gastroenterology, 154(4), 956-970. PubMed: 28847782
Online Mendelian Inheritance in Man (OMIM). (2021). Hemochromatosis Type 4. OMIM: 606069
National Center for Biotechnology Information (NCBI) Gene. (2021). SLC40A1 solute carrier family 40 member 1 [Homo sapiens (human)]. Gene ID: 30061
Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS). (2019). Hemochromatosis. ORDR: 8302
Hemochromatosis Information Society (HIS). (2021). Hemochromatosis and African Iron Overload. HIS website
Centers for Disease Control and Prevention (CDC). (2019). Hereditary Hemochromatosis. CDC website